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 TitleAuthors / EditorsDate
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DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome Joshi, Ricky S; Garg, Paras; Zaitlen, Noah; Lappalainen, Tuuli Emilia; ... Sharp, Andrew James 2016
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Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region Brault, Véronique; Duchon, Arnaud; Romestaing, Caroline; Sahun, Ignasi; ... Herault, Yann 2015
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The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome Sailani, Mohammad Reza; Makrythanasis, Periklis; Valsesia, Armand; Santoni, Federico; ... Antonarakis, Stylianos 2013
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Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTB. Borel, Christelle; Migliavacca Voeffray, Eugenia Linda; Letourneau, Audrey; Gagnebin, Maryline; ... Antonarakis, Stylianos 2012
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Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele Radhakrishna, Uppala; Nath, Swapan K; McElreavey, Ken; Ratnamala, Uppala; ... Butler, Merlin G 2012
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Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15 Sharp, Andrew James; Migliavacca, Eugenia; Dupre, Yann; Stathaki, Elisavet; ... Antonarakis, Stylianos 2010
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15q13.3 microdeletions increase risk of idiopathic generalized epilepsy Sharp, Andrew James; Guipponi, Michel; Fuchs, Katrin; Malafosse, Alain 2009